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Clinical Medicine x Neuropathology x clear all

Abnormalities of fixation, saccade and pursuit in posterior cortical atrophy

Timothy J. Shakespeare, Diego Kaski, Keir X. X. Yong, Ross W. Paterson, Catherine F. Slattery, Natalie S. Ryan, Jonathan M. Schott and Sebastian J. Crutch.

in Brain

July 2015; p ublished online April 2015 .

Journal Article. Subjects: Neuropathology; Disorders of the Nervous System. 9780 words.

The clinico-neuroradiological syndrome posterior cortical atrophy is the cardinal ‘visual dementia’ and most common atypical Alzheimer’s disease phenotype, offering insights into mechanisms...

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Accumulation of murine amyloid-β mimics early Alzheimer’s disease

Markus Krohn, Alexander Bracke, Yosef Avchalumov, Toni Schumacher, Jacqueline Hofrichter, Kristin Paarmann, Christina Fröhlich, Cathleen Lange, Thomas Brüning, Oliver von Bohlen und Halbach and Jens Pahnke.

in Brain

August 2015; p ublished online May 2015 .

Journal Article. Subjects: Disorders of the Nervous System; Neuropathology. 7267 words.

Amyloidosis mouse models of Alzheimer’s disease are generally established by transgenic approaches leading to an overexpression of mutated human genes that are known to be involved in the...

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Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Joerg P. Halter, W. Michael, M. Schüpbach, Hanna Mandel, Carlo Casali, Kim Orchard, Matthew Collin, David Valcarcel, Attilio Rovelli, Massimiliano Filosto, Maria T. Dotti, Giuseppe Marotta, Guillem Pintos, Pere Barba, Anna Accarino, Christelle Ferra, Isabel Illa, Yves Beguin, Jaap A. Bakker, Jaap J. Boelens, Irenaeus F. M. de Coo, Keith Fay, Carolyn M. Sue, David Nachbaur, Heinz Zoller, Claudia Sobreira, Belinda Pinto Simoes, Simon R. Hammans, David Savage, Ramon Martí, Patrick F. Chinnery, Ronit Elhasid, Alois Gratwohl and Michio Hirano.

in Brain

October 2015; p ublished online August 2015 .

Journal Article. Subjects: Sensory and Motor Systems; Disorders of the Nervous System; Neuropathology. 6101 words.

Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutat...

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Alteration in 5-hydroxymethylcytosine-mediated epigenetic regulation leads to Purkinje cell vulnerability in ATM deficiency

Dewei Jiang, Ying Zhang, Ronald P. Hart, Jianmin Chen, Karl Herrup and Jiali Li.

in Brain

December 2015; p ublished online October 2015 .

Journal Article. Subjects: Neuropathology; Disorders of the Nervous System. 8858 words.

A long-standing mystery surrounding ataxia-telangiectasia is why it is mainly cerebellar neurons, Purkinje cells in particular, that appear vulnerable to ATM deficiency. Here we present...

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Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis

Pauline Vercruysse, Jérôme Sinniger, Hajer El Oussini, Jelena Scekic-Zahirovic, Stéphane Dieterlé, Reinhard Dengler, Thomas Meyer, Stephan Zierz, Jan Kassubek, Wilhelm Fischer, Jens Dreyhaupt, Torsten Grehl, Andreas Hermann, Julian Grosskreutz, Anke Witting, Ludo Van Den Bosch, Odile Spreux-Varoquaux, Albert C. Ludolph and Luc Dupuis.

in Brain

April 2016; p ublished online March 2016 .

Journal Article. Subjects: Sensory and Motor Systems; Neuropathology; Disorders of the Nervous System. 8567 words.

Amyotrophic lateral sclerosis, the most common adult-onset motor neuron disease, leads to death within 3 to 5 years after onset. Beyond progressive motor impairment, patients with...

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Altered PDE10A expression detectable early before symptomatic onset in Huntington’s disease

Flavia Niccolini, Salman Haider, Tiago Reis Marques, Nils Muhlert, Andri C. Tziortzi, Graham E. Searle, Sridhar Natesan, Paola Piccini, Shitij Kapur, Eugenii A. Rabiner, Roger N. Gunn, Sarah J. Tabrizi and Marios Politis.

in Brain

October 2015; p ublished online July 2015 .

Journal Article. Subjects: Sensory and Motor Systems; Disorders of the Nervous System; Neuropathology. 8891 words.

There is an urgent need for early biomarkers and novel disease-modifying therapies in Huntington’s disease. Huntington’s disease pathology involves the toxic effect of mutant huntingtin...

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Alzheimer’s disease cerebrospinal fluid biomarker in cognitively normal subjects

Jon B. Toledo, Henrik Zetterberg, Argonde C. van Harten, Lidia Glodzik, Pablo Martinez-Lage, Luisella Bocchio-Chiavetto, Lorena Rami, Oskar Hansson, Reisa Sperling, Sebastiaan Engelborghs, Ricardo S. Osorio, Hugo Vanderstichele, Manu Vandijck, Harald Hampel, Stefan Teipl, Abhay Moghekar, Marilyn Albert, William T. Hu, Jose A. Monge Argilés, Ana Gorostidi, Charlotte E. Teunissen, Peter P. De Deyn, Bradley T. Hyman, Jose L. Molinuevo, Giovanni B. Frisoni, Gurutz Linazasoro, Mony J. de Leon, Wiesje M. van der Flier, Philip Scheltens, Kaj Blennow, Leslie M. Shaw and John Q. Trojanowski.

in Brain

September 2015; p ublished online July 2015 .

Journal Article. Subjects: Neuropathology; Disorders of the Nervous System. 8402 words.

In a large multicentre sample of cognitively normal subjects, as a function of age, gender and APOE genotype, we studied the frequency of abnormal cerebrospinal fluid levels of Alzheimer’s...

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Alzheimer-related decrease in CYFIP2 links amyloid production to tau hyperphosphorylation and memory loss

Sachin Suresh Tiwari, Keiko Mizuno, Anshua Ghosh, Wajeeha Aziz, Claire Troakes, Jason Daoud, Vidushi Golash, Wendy Noble, Tibor Hortobágyi and Karl Peter Giese.

in Brain

October 2016; p ublished online August 2016 .

Journal Article. Subjects: Neuropathology; Disorders of the Nervous System. 9837 words.

Characteristic features of Alzheimer’s disease are memory loss, plaques resulting from abnormal processing of amyloid precursor protein (APP), and presence of neurofibrillary tangles and...

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Amyloid-β deposition and regional grey matter atrophy rates in dementia with Lewy bodies

Lidia Sarro, Matthew L. Senjem, Emily S. Lundt, Scott A. Przybelski, Timothy G. Lesnick, Jonathan Graff-Radford, Bradley F. Boeve, Val J. Lowe, Tanis J. Ferman, David S. Knopman, Giancarlo Comi, Massimo Filippi, Ronald C. Petersen, Clifford R. Jack and Kejal Kantarci.

in Brain

October 2016; p ublished online July 2016 .

Journal Article. Subjects: Neuropathology; Disorders of the Nervous System. 7011 words.

Alzheimer’s disease pathology frequently coexists with Lewy body disease at autopsy in patients with probable dementia with Lewy bodies. More than half of patients with probable dementia...

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Amyloid-β dimers in the absence of plaque pathology impair learning and synaptic plasticity

Andreas Müller-Schiffmann, Arne Herring, Laila Abdel-Hafiz, Aisa N. Chepkova, Sandra Schäble, Diana Wedel, Anselm H. C. Horn, Heinrich Sticht, Maria A. de Souza Silva, Kurt Gottmann, Olga A. Sergeeva, Joseph P. Huston, Kathy Keyvani and Carsten Korth.

in Brain

February 2016; p ublished online December 2015 .

Journal Article. Subjects: Neuropathology; Disorders of the Nervous System. 11431 words.

Despite amyloid plaques, consisting of insoluble, aggregated amyloid-β peptides, being a defining feature of Alzheimer’s disease, their significance has been challenged due to controversial...

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